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An Overview of Hemophilia

by Ana


Hemophilia is one of the famous bleeding disorders that are often well defined as an inherited coagulation disorder.

When you cut your hand, the blood that oozes out of your hand should stop within a few seconds, which is an indication of normal metabolism, owing to the presence of clotting factors in the blood to stop bleeding. This has been identified that there are lowered amounts or absence of these clotting factors in hemophilic patients. There is a difference between bleeding faster and bleeding for a longer time.

Hemophilic patients are those who bleed for a longer time. In addition, this is a real dangerous situation, if the hemophilic patients experience internal bleeding and most the time will go unnoticed until is too late.

Hemophilia is a Genetic Disorder

Hemophilia is a genetic disorder and is not a sexually transmitted disease or a congenital disease. However, this is passed via mother’s pedigree as the gene has been identified to be located on the X-chromosome that the child gets from the mother’s DNA and not from the Y-chromosome that the child gets from the father’s DNA. Many of the cases, have also been identified with no prior family case history, and have been attributed to the previous family history.

What is good about hemophilia is that this is a genetic disorder with a human heart that the severe forms occur mostly in men and not in women. Women are carriers of hemophilia that they hardly suffer from the disease and only suffer minor symptoms. On the other hand, men suffer from hemophilia with severe symptoms.

Hemophilia initially became known to this part of the world, only after identifying the disease in some of the descendants of the royal family from Queen Victoria, and hence is also known as the royal disease.

Types of Hemophilia

Hemophilia has been identified to be of three types based on genetic factors that has been mutated and has resulted in hemophilia

Hemophilia A

This occurs when the recessive X-linked gene that results in the lack of functionality of the clotting factor VIII and has been identified to be the major cause of hemophilia in more than 80% of the individuals.

Hemophilia B

This occurs when the recessive X-linked gene that results in the lack of functionality of the clotting factor IX and has been identified to be the major cause of hemophilia in more than 20% of the individuals.

Hemophilia C

Hemophilia C is an autosomal genetic disorder that involves the lack of functional clotting of Factor XI, which means is not X-linked.
Complications of hemophilia

Some of the severe complications of hemophilia are described as below

  • Deep internal bleeding will include deep muscle bleeding, leading to swelling, numbness or pain in the limb.
  • Joint damage from will result in haemarthrosis that will result in severe pain, disfigurement, and destruction of joints.
  • Transfusion transmitted infection that can occur via blood transfusion, which occurs from the donors blood. A classic example is the case history of Ryan White, the first American to have been identified to have contracted with HIV and AIDS via blood transfusion.
  • Adverse reactions to clotting factor treatment that can cause immune complex disorders.
  • Intracranial hemorrhage is a kind of medical emergency that can result in buildup of pressure inside the skull. This can result in disorientation, loss of memory and nausea.

Life expectancy of hemophilic men has been observed to be 50 to 60 years of age, while that of women is up to the time of puberty or childbirth.

Treatment for Hemophilia

This is a lifelong condition that has no cure, the maximum in the earlier days of the disease being liver transplantation. This has been successfully succeeded by clotting factor replacement therapy, which will involve periodic infusions of the deficient clotting factor into the child’s blood stream.

This is given as IV treatment by regular and periodic visits to the hematologic clinic, and has been helpful in preventing joint damage. Some of the latest treatments for hemophilia will include inhibitors of Factor IX causing hemophilia B and a recombinant factor VII that helps in bypassing the some of the stages of coagulation and redirecting the path of coagulation to overcome the delay in coagulation of blood owing to deficiencies. However, still more research is to be done before a complete cure could be identified.

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